High frequency and reduced penetrance of lRRK2 g2019S mutation among Parkinson's disease patients in Cantabria (Spain)
Identifieur interne : 001636 ( Main/Exploration ); précédent : 001635; suivant : 001637High frequency and reduced penetrance of lRRK2 g2019S mutation among Parkinson's disease patients in Cantabria (Spain)
Auteurs : María Sierra [Espagne] ; Isabel González-Aramburu [Espagne] ; Pascual Sánchez-Juan [Espagne] ; Coro Sánchez-Quintana [Espagne] ; José Miguel Polo [Espagne] ; José Berciano [Espagne] ; Onofre Combarros [Espagne] ; Jon Infante [Espagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2011-11.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
- Adult, Aged, Aged, 80 and over, Female, G2019S, Gene Frequency, Gene penetrance, Genetic Predisposition to Disease, Genotype, Heterozygote Detection, High frequency, Human, Humans, LRRK2, Male, Middle Aged, Mutation, Nervous system diseases, Parkinson Disease (classification), Parkinson Disease (epidemiology), Parkinson Disease (genetics), Parkinson disease, Parkinson's disease, Penetrance, Point Mutation (genetics), Protein-Serine-Threonine Kinases (genetics), Spain, Spain (epidemiology), penetrance.
- MESH :
- chemical , genetics : Protein-Serine-Threonine Kinases.
- geographic , epidemiology : Spain.
- classification : Parkinson Disease.
- epidemiology : Parkinson Disease.
- genetics : Parkinson Disease, Point Mutation.
- Adult, Aged, Aged, 80 and over, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Heterozygote Detection, Humans, Male, Middle Aged, Penetrance.
Abstract
The frequency and penetrance of the LRRK2 G2019S mutation varies considerably in different Parkinson disease (PD) populations. This information is essential both for clinical purposes and genetic counseling. The objective of this study was to estimate the prevalence and penetrance of the G2019S mutation of the LRRK2 gene in a small region in northern Spain (Cantabria). The G2019S mutation was tested in 367 consecutive patients with PD attended as outpatients in a tertiary Hospital in Northern Spain, and 126 at‐risk family members of probands were also investigated for G2019S mutation and disease status. The gene penetrance was estimated in terms of cumulative age‐specific incidence of PD by the Kaplan‐Meier method. Thirty‐two PD patients (8.7%) carried the G2019S mutation. Penetrance estimation of the G2019S mutation was 2% at 50 years, 12% at 60 years, 26% at 70 years, and 47% at 80 years. The frequency of the G2019S mutation of the LRRK2 gene in PD patients from Cantabria is among the highest reported so far after North African Arabs and Ashkenazi Jews. At the age of 80 years only one‐half of G2019S mutation carriers manifest motor symptoms of PD. © 2011 Movement Disorder Society
Url:
DOI: 10.1002/mds.23965
Affiliations:
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-11">2011-11</date><biblScope unit="vol">26</biblScope><biblScope unit="issue">13</biblScope><biblScope unit="page" from="2343">2343</biblScope><biblScope unit="page" to="2346">2346</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">80A5250AE2648371A02BAB21AA02874985ADD54B</idno><idno type="DOI">10.1002/mds.23965</idno><idno type="ArticleID">MDS23965</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Female</term><term>G2019S</term><term>Gene Frequency</term><term>Gene penetrance</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Heterozygote Detection</term><term>High frequency</term><term>Human</term><term>Humans</term><term>LRRK2</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Nervous system diseases</term><term>Parkinson Disease (classification)</term><term>Parkinson Disease (epidemiology)</term><term>Parkinson Disease (genetics)</term><term>Parkinson disease</term><term>Parkinson's disease</term><term>Penetrance</term><term>Point Mutation (genetics)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Spain</term><term>Spain (epidemiology)</term><term>penetrance</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Spain</term></keywords><keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term><term>Point Mutation</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Heterozygote Detection</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Penetrance</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Espagne</term><term>Haute fréquence</term><term>Homme</term><term>Maladie de Parkinson</term><term>Mutation</term><term>Pathologie du système nerveux</term><term>Pénétrance génique</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Espagne</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The frequency and penetrance of the LRRK2 G2019S mutation varies considerably in different Parkinson disease (PD) populations. This information is essential both for clinical purposes and genetic counseling. The objective of this study was to estimate the prevalence and penetrance of the G2019S mutation of the LRRK2 gene in a small region in northern Spain (Cantabria). The G2019S mutation was tested in 367 consecutive patients with PD attended as outpatients in a tertiary Hospital in Northern Spain, and 126 at‐risk family members of probands were also investigated for G2019S mutation and disease status. The gene penetrance was estimated in terms of cumulative age‐specific incidence of PD by the Kaplan‐Meier method. Thirty‐two PD patients (8.7%) carried the G2019S mutation. Penetrance estimation of the G2019S mutation was 2% at 50 years, 12% at 60 years, 26% at 70 years, and 47% at 80 years. The frequency of the G2019S mutation of the LRRK2 gene in PD patients from Cantabria is among the highest reported so far after North African Arabs and Ashkenazi Jews. At the age of 80 years only one‐half of G2019S mutation carriers manifest motor symptoms of PD. © 2011 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Espagne</li></country></list><tree><country name="Espagne"><noRegion><name sortKey="Sierra, Maria" sort="Sierra, Maria" uniqKey="Sierra M" first="María" last="Sierra">María Sierra</name></noRegion><name sortKey="Berciano, Jose" sort="Berciano, Jose" uniqKey="Berciano J" first="José" last="Berciano">José Berciano</name><name sortKey="Berciano, Jose" sort="Berciano, Jose" uniqKey="Berciano J" first="José" last="Berciano">José Berciano</name><name sortKey="Combarros, Onofre" sort="Combarros, Onofre" uniqKey="Combarros O" first="Onofre" last="Combarros">Onofre Combarros</name><name sortKey="Combarros, Onofre" sort="Combarros, Onofre" uniqKey="Combarros O" first="Onofre" last="Combarros">Onofre Combarros</name><name sortKey="Gonzalez Ramburu, Isabel" sort="Gonzalez Ramburu, Isabel" uniqKey="Gonzalez Ramburu I" first="Isabel" last="González-Aramburu">Isabel González-Aramburu</name><name sortKey="Infante, Jon" sort="Infante, Jon" uniqKey="Infante J" first="Jon" last="Infante">Jon Infante</name><name sortKey="Infante, Jon" sort="Infante, Jon" uniqKey="Infante J" first="Jon" last="Infante">Jon Infante</name><name sortKey="Polo, Jose Miguel" sort="Polo, Jose Miguel" uniqKey="Polo J" first="José Miguel" last="Polo">José Miguel Polo</name><name sortKey="Sanchez Uan, Pascual" sort="Sanchez Uan, Pascual" uniqKey="Sanchez Uan P" first="Pascual" last="Sánchez-Juan">Pascual Sánchez-Juan</name><name sortKey="Sanchez Uan, Pascual" sort="Sanchez Uan, Pascual" uniqKey="Sanchez Uan P" first="Pascual" last="Sánchez-Juan">Pascual Sánchez-Juan</name><name sortKey="Sanchez Uintana, Coro" sort="Sanchez Uintana, Coro" uniqKey="Sanchez Uintana C" first="Coro" last="Sánchez-Quintana">Coro Sánchez-Quintana</name><name sortKey="Sanchez Uintana, Coro" sort="Sanchez Uintana, Coro" uniqKey="Sanchez Uintana C" first="Coro" last="Sánchez-Quintana">Coro Sánchez-Quintana</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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